Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.Q129*

PLP1

670 papers

RefSeq Summary

This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheat...

Pfam Domains

Myelin_PLPaa 4–273UCSCMyelin proteolipid protein (PLP or lipophilin)

Gene Aliases

HGNC Name

proteolipid protein 1

HGNC Alias Symbol

GPM6C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_000533.5
p.Q129*
c.385C>T
Surrounding Variants
1 paper
NM_000533.5
p.Q129_H130insFs
c.387_388insA
1 paper
NM_000533.5
p.Q129fs
c.385_386fs
1 paper
NM_000533.5
p.G128G
c.384C>G
1 paper
NM_000533.5
p.G128D
c.383G>A
1 paper
NM_000533.5
p.G128_Q131delFs
c.384_393del10
1 paper
NM_000533.5
p.H130N
c.388C>A
3 papers
NM_000533.5
p.H130Y
c.388C>T
1 paper
NM_000533.5
p.G128S
c.382G>A
1 paper
NM_000533.5
p.R127S
c.381A>T
1 paper
NM_000533.5
p.R127_Q131Fs
c.381_392delinsCCFs
1 paper
NM_000533.5
p.R127fs
c.379_380fs
3 papers
NM_000533.5
p.Q131*
c.391C>T
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